ClinVar Miner

Variants in gene COL11A2 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.3(COL11A2):c.2017-5T>G rs200523422
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080680.3(COL11A2):c.4863+7G>A rs200947059

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